贝赫切特氏病的 Omics 研究。

IF 5.2 2区 医学 Q1 RHEUMATOLOGY Current opinion in rheumatology Pub Date : 2024-11-08 DOI:10.1097/BOR.0000000000001067
Yesim Ozguler, Johannes Nowatzky
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引用次数: 0

摘要

综述的目的:在这篇综述中,我们旨在重点介绍贝赫切特病"-组学 "研究的最新发现:贝赫切特病的最新基因组研究发现了可能与贝赫切特病相关的葡萄膜炎、神经系统受累和胃肠道受累有关的风险位点。此外,还确定了贝赫切特病的性别特异性遗传效应。贝赫切特病免疫细胞的转录组分析表明,NF-κB 和 MAPK 等关键炎症通路在贝赫切特病发病机制中发挥作用。蛋白质组学研究强调了免疫细胞衍生的细胞外囊泡的作用,确定了血管受累的潜在生物标志物,并检查了与 HLA I 结合的免疫肽组。代谢组学研究仍然有限,但最近的研究表明,贝赫切特病患者的脂肪酸代谢和脂质谱发生了改变。摘要:通过生成大量数据集,Omics 研究在贝赫切特病领域变得越来越重要,扩大其应用范围的努力也在不断加强。这些研究如果能提出可检验的假设,就能为了解贝赫切特病的发病机制提供机会。目前面临的挑战包括:选择适当同质的患者组和对照组、有效的数据管理和共享、高昂的成本,以及所产生的大量观察性数据与可导致机理理解的对照实验工作相对匮乏之间迅速扩大的差距。
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Omics studies in Behçet's disease.

Purpose of review: In this review, we aimed to highlight recent findings from "-omics" studies in Behçet's disease.

Recent findings: Recent genomic studies in Behçet's disease identified possible risk loci associated with Behçet's disease related uveitis, neurologic involvement and gastrointestinal involvement. Additionally, sex-specific genetic effects were determined in Behçet's disease. Transcriptomic analyses of immune cells in Behçet's disease revealed that key inflammatory pathways such as NF-κB and MAPK have roles in Behçet's disease pathogenesis. Proteomic studies have highlighted the role of immune cell derived extracellular vesicles and identified potential biomarkers for vascular involvement and examined HLA I-bound immunopeptidomes. Metabolomics studies are still limited, but recent research has pointed to alterations in fatty acid metabolism and lipid profiles in Behçet's disease patient.

Summary: Omics studies have gained importance in the field of Behçet's disease through the generation of large data sets and efforts to extend their application are intensifying. These studies can provide opportunities for understanding Behçet's disease pathogenesis when they lead to testable hypotheses. Current challenges include the choice of appropriately homogeneous patient and control groups, effective data management and sharing, high cost and a rapidly increasing gap between the wealth of observational data generated and the relative paucity of controlled experimental efforts that could lead to mechanistic understanding.

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来源期刊
Current opinion in rheumatology
Current opinion in rheumatology 医学-风湿病学
CiteScore
9.70
自引率
2.00%
发文量
89
审稿时长
6-12 weeks
期刊介绍: A high impact review journal which boasts an international readership, Current Opinion in Rheumatology offers a broad-based perspective on the most recent and exciting developments within the field of rheumatology. Published bimonthly, each issue features insightful editorials and high quality invited reviews covering two or three key disciplines which include vasculitis syndromes, medical physiology and rheumatic diseases, crystal deposition diseases and rheumatoid arthritis. Each discipline introduces world renowned guest editors to ensure the journal is at the forefront of knowledge development and delivers balanced, expert assessments of advances from the previous year.
期刊最新文献
Neurovascular dysregulation in systemic sclerosis: novel insights into pathophysiology, diagnosis, and treatment utilizing invasive cardiopulmonary exercise testing. Omics studies in Behçet's disease. Recent advances in immunometabolism in rheumatic diseases. Pathogenesis of psoriatic arthritis: new insights from a bone marrow perspective. VEXAS syndrome: an adult-onset autoinflammatory disorder with underlying somatic mutation.
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